March 07, 2013

Y chromosomes of Bulgarians (Karachanak et al. 2013)

Bulgaria had been something of a blank area in studies of uniparental markers, so it's nice to finally see a comprehensive Y-chromosome study of the country.

The dates in the paper are based on the "evolutionary mutation rate". I suspect that ancient DNA will be the final arbiter in this issue, because, for example, a Mesolithic TMRCA of E-V13 in Bulgaria implies that we'll find a lot of it in Neolithic contexts, whereas a Bronze Age one implies that we'll find a little if any of it, and a discontinuity across time.

Of interest is the occurrence of some E*(xM35, M2) in this sample in Burgas, Varna, and Plovdiv. It would be interesting to trace the ancestry of the bearers of these Y-chromosomes. I know that there still exists a minority-within-a-minority of Black Muslims in Greek Thrace, and it's not inconceivable that these Y-chromosomes may represent the legacy of a similar population; in any case, their haplotypes can be found in Table S5 for anyone wanting to investigate.

SNP Diversity within R seems substantial, and as always, it is difficult to say much, since this may be a consequence of either (i) a plausible role of the Balkans as a staging point of the likely invasion of Europe in late prehistory, or (ii) back-migration of derived R-bearers into the Balkans, be them Slavs or Goths or "eastern" folks of various stripes during history. Once again, I suspect that ancient DNA might solve this riddle, or, alternatively, routine high-coverage sequencing of the Y chromosome that might inform us, e.g., about the TMRCA of a Bulgarian and a German R-U152 or a Bulgarian and Polish R-M458.

PLoS ONE 8(3): e56779. doi:10.1371/journal.pone.0056779

Y-Chromosome Diversity in Modern Bulgarians: New Clues about Their Ancestry

Sena Karachanak et al

To better define the structure and origin of the Bulgarian paternal gene pool, we have examined the Y-chromosome variation in 808 Bulgarian males. The analysis was performed by high-resolution genotyping of biallelic markers and by analyzing the STR variation within the most informative haplogroups. We found that the Y-chromosome gene pool in modern Bulgarians is primarily represented by Western Eurasian haplogroups with ~ 40% belonging to haplogroups E-V13 and I-M423, and 20% to R-M17. Haplogroups common in the Middle East (J and G) and in South Western Asia (R-L23*) occur at frequencies of 19% and 5%, respectively. Haplogroups C, N and Q, distinctive for Altaic and Central Asian Turkic-speaking populations, occur at the negligible frequency of only 1.5%. Principal Component analyses group Bulgarians with European populations, apart from Central Asian Turkic-speaking groups and South Western Asia populations. Within the country, the genetic variation is structured in Western, Central and Eastern Bulgaria indicating that the Balkan Mountains have been permeable to human movements. The lineage analysis provided the following interesting results: (i) R-L23* is present in Eastern Bulgaria since the post glacial period; (ii) haplogroup E-V13 has a Mesolithic age in Bulgaria from where it expanded after the arrival of farming; (iii) haplogroup J-M241 probably reflects the Neolithic westward expansion of farmers from the earliest sites along the Black Sea. On the whole, in light of the most recent historical studies, which indicate a substantial proto-Bulgarian input to the contemporary Bulgarian people, our data suggest that a common paternal ancestry between the proto-Bulgarians and the Altaic and Central Asian Turkic-speaking populations either did not exist or was negligible.

40 comments:

The Bulgars were a Turkic-speaking people of Central Asian provenance when they appeared in history. After many long and bloody conflicts with the Byzantines in the second half of the first millennium, the Bulgars became Christianized and later became Slavicized. In all the historical wending and weaving, the Thracian, the proto-inhabitants that Gimbutas writes about, the Slavs and Macedonians and Albanians and Greeks all had a part in the make-up of modern Bulgaria.

The bitter enmity between the average Bulgarian and the Turks is ironic in that they do share some smidgeon of a common ancestry.

A constant nonsense that gets thrown from article to article is the expectation that any presumably Turkic group, like the Bulgars, must be of 'Central Asian" genetic profile. Yet there were likely Turkic speaking groups in west Eurasia for a longer time that generally posited (500 AD ~ ). They didn;t need to have come from central Asia, and the studies from ancient Pechenegs, for example, anyhow show them to be of 'western Eurasian' genetic profile; making a search for some 'Asian' genetic input from these ancient populations blind sighted

Their PCoA analysis is dismal ! They've just lumped all SNPs at the base levels. Eg they group all Hg I togetherm irrespective whether it is I! or I@, and thus have Scandinavians grouping with west South Slavs.

The historians spent a lot of time to count and to describe the uncountable number of times that Thracia has been invaded, ruined and depopulated by hordes, armies, irregulars and bandits since the first IE invasions about 4000BC and specially between 250AD first great barbarian invasions and 1450 final Ottoman victory.

The results demonstrates the final sentences of the masterpiece of Akiro Kurosawa "The Seven Samouraï": there is a time for warriors and bandits who are often exterminated by their own, but the final success is the more often for peasants, working and peaceful people.

We can hope quick progress in SNP determination to solve the problem of datations by STR.

I don't know if this is correct. Some historians believed the Bulgars were rather Pamiri "iranians" than altaic Turks (what's about R1a?).And another point is that those central asian tribes assimilated other tribes. So the Altaic part among them was maybe low.It was maybe the same for the Khazars and other tribes that moved to the west.

The authors of the paper assert that the early medieval Bulgars, whom they regard to be an East Iranic people with an origin in ancient Bactria, had a substantial impact on the demographics of what is now Bulgaria; yet the results of the paper conflict with that claim. As in previous genetic studies on Bulgarians, modern Bulgarians genetically firmly cluster with their Balkan neighbors and are far from the populations of the territories of Greater Iran. Hence, as it was already apparent from previous genetic studies, the early medieval Bulgars are unlikely to have had a substantial demographic impact on what is now Bulgaria, irrespective of whether they were Turkic or Iranic.

I understand that there are a few remaining Turkic people in Turkey, presumably of the 11th century Turkic invasion, that live in isolated parts of Turkey and still retain many of their nomadic customs, as well I suppose as their original racial make-up. Couldn't these people be tested to verify what y-dna haplogroups were brought to Turkey by them? I ask because there's a contradiction between the purported Turkic y-dna of the people of Turkey, mostly N, and the y-dna of the people of Central Asia, where N is very low.

Recently the official version about origin of Bulgarians is pushing for millions of ProtoBulgarians settling in the deserted Eastern Balkans, who although may have come from Central Asia are somehow 100% of IndoEuropean/Iranian descent.This is laughable as archaeological evidence of existence of old Bulgars is found only in North East Bulgaria and Dobruja. However, hardly any Slav speaking Bulgarians lived their until 19 century. There was a large internal migration in the Ottoman Empire after peasants were freed from serfdom. There was big movement of people from what is now Albania and Macedonia to Eastern Bulgaria and Aegean Thrace. For that reason as is mentioned in the study there is not any evidence of regional clustering, everybody is well mixed up.Although we could expect the model of Bulgarian ethnogenesis to be recent expansion after a bottleneck, the results are not in line with that. There is a big diversity both as haplogroups and haplotypes. A dominant haplogroup is not present as in Western and Eastern Europe and even the Western Balkans. I2a2-Dinaric and E-V13 hardly reach 20%.Regarding R1a, it seems Bulgarians are either M458 or Z280 with small exceptions like the Old European M417-. There is not any evidence until now of any Asian Z93.I think the using of Zhivotovsky's dating makes the age of E-V13 and I2a much older and goes into Mesolithic. As for the scientific value of the study, it is mentioned it was edited by Dr. P.A. Underhill himself, so don't blame Karachanak, who was just a PhD student in Italy.

Has anyone ever compared the people in Afghanistan FST to that of a EUropean Population (excluing southeast europe) I bet that the English and the Poles , and even some people in Scandinavia,Iberia, And Italy,are closer related to the INDDO-European Afghans especially THE Tajikistan Afghans than they are to the Serbians, Greeks, Macedonian and Bulgarians all of whom cotian between 20-30% haplogroup E-35 which is about 2-4 times the frequency in Europe Excluding the Balkans. IN addition to this most INdo-European speaking populations of EUrope pocess a frequency of R that is around 560-80%. The afghans have 60-70% R and no E-35. It is just a theory now but I would really like to see how closely the Germanic,SLavic and Latin speaking popualtions of Europe are to the Afghans espically the Afghan Tajiks who seem to have a very low frequency of Eastern Eurasian Mtdna.

@ kalupitero: You are actually wrong, there are plenty of Turkic people in Turkey. This is a common mistake that Westerners make, and even I (although a Greek) used to make before travelling to and living in Turkey. For me and most Greeks, Turkey was "terra incognita". We never really bothered to study Turkey and the Turks and thus one of the common "urban legends" in Greece about Turkey, is that there are very few original Turks in Turkey (as opposed to Turks of other non-Turkic ethnic backgrounds). After living in Turkey and meeting many Turks I changed my mind completely. Even in provinces of Western Anatolia, there are many people with slanted eyes, high cheekbones and very obvious Central Asian ancestry. We Greeks used to think that many Turks are former Byzantine people who merely switched to Islam, however, after having lived in Turkey I no longer believe that, as many (not all!) Turks have got quite obvious Central Asian admixture. I am no scientist like some people here-I am just sharing with you my observations after having lived in Turkey as a Greek. Other observations: Although I passed off as a local in Turkey and despite the fact that some of these lands were ours in the past, I felt half-native and half-stranger in Turkey, whereas I felt 100% native in Rome and Italy in general. "Roman".On Topic: I am not surprised with the results of the present study.

A Mesolithic V13 dating is not a problem for two reasons:1) Wei et al high coverage resequencing data has a V13 and 2 V22 chromosomes. The separation between V13 and V22 is 29 SNPs, while the separation of the R1b's from Western Europe is 13 SNPs. Wei et al give a rho-value for the age of R1b as 4300 bp. That gives their separation between V22 and V13 as 29/13*4300=9600 bp, clearly mesolithic in the Balkans and not far from the paper's YSTR estimate of 8000 to 10000 bp for V13. 2) Somewhat to my chagrin, V13 was discovered in a Neolithic context with ancient DNA in Western Europe pointing to its antiquity.So both Y next generation sequencing and YSTR data point to a Mesolithic dating of V13 in the Balkans.

The Kalash are Isolated, I do not think they are close to Europeans,Populations close to Europeans according to Uni-paternal markers include the Nuristani, the Tajiks in Afghanistan, and the Shugnan, in addition if the SHugnan have lots of haplogroup R1b1b then it is possible tat the ancestors to the bulk of modern Europeans may have been nin the area around Afghanistan or Central asia during Mesolithic times.

@Daniel Kalina your theory is wrong. Genetically North Caucasians, are closer to North/ Northwest and Central Europeans as Tajiks are. If any Tajiks might be similar close to Northeastern Europeans as Turks, Kurds and Iranians but I doubt this is the case when you move westward.

Tajiks are high in R1a but you have to also take into account that there are still 40% other yDNA haplogroups. Not only this there is still mtDNA on which Tajiks most probably have even a good number of non Caucasian lineages. Scandinavia is relatively high in R1a but it is dominated by Haplogroup I. Haplogroup I's closest relative is J. Than you got also a relatively high frequency of R1b too which misses in Tajiks. However Tajiks, compared to their neighbors are closest you get to Iranians and Turks and genetically you could see them as part of Western Asian landscape.

The Central Asian Turkic ancestry in Turks (as usual, by Turks I mean Turks of Turkey) exists in a very diluted form as a result of the centuries of mixing with the natives of the former Byzantine Empire. Thus despite the fact that the overwhelming majority of the population of Turkey are Turks ethnically, only a very small percentage (not more than 5%) of the population of Turkey possess visible Mongoloid features according to the physical anthropological analyses. This is no more than the frequency of possession of Mongoloid features in Eastern Europe.

Even in provinces of Western Anatolia, there are many people with slanted eyes, high cheekbones and very obvious Central Asian ancestry.

Even? According to the historical records and, apparently, genetics, coastal southwestern Anatolian Turks (excluding recent migrants from the Balkans and the other parts of Anatolia) have the highest amount of Central Asian Turkic ancestry in Turkey, probably a result of the significant Yoruk (=nomadic Turk) heritage of that part of Turkey.

As far as I know there was once a study on 3 Central Anatolian villages. One of them of Avsar Turkic origin. This Avsar village was high in Haplogroup L and Q.

That Avshar village is a genetically and culturally exceptional village for Turkey. I know this because I corresponded with the lead author of that study, Ömer Gökçümen, who told me how exceptional that village is and added that his team genetically investigated many more villages of Anatolia but did not publish their results.

I have not seen the Fst distances of many Afghanistani populations, but the ones I have seen possess clearly higher Fst distances to Europeans than those of Turks, Armenians, Caucasians, Kurds and Iranians.

I have seen the MDS/PCA and ADMIXTURE/STRUCTURE analyses of many Afghanistani and Tajikistani populations. In MDS/PCA plots all Afghanistani and Tajikistani populations I have seen are more distant from Europeans than Turks, Armenians, etc. are.

According to the ADMIXTURE/STRUCTURE analyses, the Afghanistan-Tajikistan area has significant South Asian (more significant in the south) and Mongoloid (more significant in the north) genetic elements which render all of its populations genetically more distant from Europeans than West Asians (except the southernmost West Asian populations that have significant Negroid admixture) are.

I guess my response to your hypothesis is that quite often, y-DNA is a very poor indicator of autosomal DNA. The example I typically give is that in central Germany, you can pick three people from a village who look like brothers, with one being R1b, one I, and the third R1a.

Even with more exotic lineages, there is an easy explanation: a group of men with some (work technique, military, or trade or whatever) advantage moving into a new area may be quite successful, requiring many local women due to common incest stigmas throughout time, even up to the third generation. By then, their autosomal DNA is much diluted, while their y-DNA may have become dominant in the region.

Another important factor is the time line of a particular haplogroup. For example, some of Afghanistan's R may be several thousands of years, if not 10,000 years or more removed from those of Europe. Yes, there is an evident connection, because ultimately, almost all Europeans derive from (West, South, Southeast, and East) Asia. But most of that happened 30,000-40,000 years ago, with some additional input during the Neolithic and, e.g., from Roma.

"A Mesolithic V13 dating is not a problem for two reasons:1) Wei et al high coverage resequencing data has a V13 and 2 V22 chromosomes. The separation between V13 and V22 is 29 SNPs, while the separation of the R1b's from Western Europe is 13 SNPs. Wei et al give a rho-value for the age of R1b as 4300 bp. That gives their separation between V22 and V13 as 29/13*4300=9600 bp, clearly mesolithic in the Balkans and not far from the paper's YSTR estimate of 8000 to 10000 bp for V13. 2) Somewhat to my chagrin, V13 was discovered in a Neolithic context with ancient DNA in Western Europe pointing to its antiquity.So both Y next generation sequencing and YSTR data point to a Mesolithic dating of V13 in the Balkans."

Perhaps, but the actual expansion of V13 in the Balkans could have still happened considerably later, eg Bronze Age

>> So both Y next generation sequencing and YSTR data point to a Mesolithic dating of V13 in the Balkans.

> Perhaps, but the actual expansion of V13 in the Balkans could have still happened considerably later, eg Bronze Age.

Conceivably any Balkan V13 was replaced by other V13 persons. If V13 could expand through the Balkans at that time, it could expaned into the Balkans.

It could even be that Balkan V13 was present during the Meso, replaced (killed, died off) by V13 or [x] during the Neo and replaced again by V13 during the Metals.

Hg contunuity per se does not indicates autosomal continuity. Any older Balkan V13 persons may have been quite different autosomally from any V13 that may have invaded thousands of years later, presumably via the Near East or from Northern Africa.

Nor would autosomal contunuity per se indicate actual population continuity. Similar folk may have invaded later. Autosomal conunity may be only apparant if V13 was followed by [x] and then V13.

@Onur: Before I start, I'd like to note that it is not my intention to insult Turks in any way. This is a friendly discussion, like you and me having tsai together.

What consists "Visble Central Asian Admixture" (I do NOT want to use the term "Mongoloid" b/c that term is used by the Nationalists here and I consider it offensive) is 100% subjective. To me, a person with Central Asian Admixture is a person with EITHER somewhat slanted eyes AND/OR somewhat high cheekbones who is notably different from Mediterranean types so much so as to strike people from the other side of the Aegean as "exotic" or "odd".

Now remember: you are talking to someone who has lived in Turkey, speaks Turkish, and was engaged to a Turkish girl. I have read the Nutuk, I have been all around Turkey from North to South and East to West, I have listened to Ney and Ottoman Music, I have read some of Mevlana's work, I have been to his mausoleum in Konya with my fiancee as a pilgrimage, I love dancing Kerimoglou Zeybek, I listen to Turkish music all day, I drink tsai 10 times per day and play with a tesbih.

Saying to me that only 5% of Turks display Central Asian Admixture because it's written in a paper won't make me buy it, b/c I know how Turks look like and I am almost Turk myself (almost). Now, I know that some Turks are obsessed with Atatürk's physical appearance, and thus they get defensive when the subject of ethnic origin is touched upon in Turkey. IMO that's wrong, you must accept yourself the way you are and be proud of it. It is not shameful to have Central Asian features, nor that makes one ugly. Indeed, Turkish women are the most beautiful in the world exactly because they are a Caucasian-Asian mix (IMO).

All women above would look exotic here in Greece, but also, unusually beautiful so much so that people on the street would just stare at them with an open mouth. Women like them are really rare in Greece, but of course existent. I will give you an example from my family: One of my mother's sisters married a man whose parents came from Giresun-Kerassounta surnamed Aslan-something, and my mother's brother married a woman whose both parents came from Smyrna-Izmir, Christian refugees of course of 1922.

Both the man (Nondas) and the woman (Mary) had heavy Central Asian admixture. They both stood out, and they still do now even in their old age. They looked totally different from local Greeks, especially my Uncle Nondas from Giresun (who always cries when he speaks of Giresun) who looks like almost completely Asian. Four of my five cousins (3 girls and 2 boys) still retain obvious Central Asian features that make them stand out in Greece. Especially my two female cousins, they look 100% Türk, in fact so much so that my youngest female cousin was mistaken as half-Japanese by some visiting Japanese Professors. My fiancee, let's call her Gökçe, remarked that my cousins were "more Türk than her".

Here's a picture of my cousin whom I refer to (the one on the left) and my other cousin on the right. They look more Turkish than many "Turks" from Edirne or Istanbul, or more Turkish than, for example, CANDAN ERÇETİN who looks 100% Euro and not Turkish at all.

http://img15.imageshack.us/img15/8339/88452654027442600356611.jpg

(I am sure this post interests Dienekes a lot. I will take the photo down after Onur replies.)

Always a pleasure to read your comments about Turkish ethnogenesis & population makeup which, as you can probably imagine, interests me a lot.

If you want to see the exotic, you see the exotic. People looking similar to the people in the photos you posted can easily be found in many Caucasoid populations except, I think, Sibel Kekilli, who, BTW, is certainly not a typical Turk (as always, by Turk I mean Turks of Turkey) and even probably the most atypical (for Turkish standards) of the people of whom you posted photos. She is exotic for Turkish standards too.

As for the study with the 5% result, it is based on the physical anthropological analyses of a total of about 60,000 people from all over Turkey (the most comprehensive so far). You are apparently not trained in physical anthropology; the people who conducted that study were.

And finally, I am not obsessed with anything, much less with Atatürk's physical appearance.

Wanted to add that Balkan nations autosomal results from 23andMe testing are collected in the Balkan Similarity Project.Unfortunately after retiring the Global Similarity feature the new Ancestry Composition is not suitable for independently compare results.I am not able to add more people and the project remains as per Nov 2012.Here are the averages, which show Turks are obviously the odd ones out. https://docs.google.com/spreadsheet/ccc?key=0AhnZkF3SRZ_JdEUwTE1MMUpjcGgtbEh2Y0trV3ZjZ3c#gid=1

The present study also mentions "Bulgarians distribute within the European cluster, very close to Macedonian Greeks, but relatively far from their south-eastern neighbours - the Turks".

It seems the Bulgarian part of the researchers - Karachanak, Toncheva, Galabov, had recently a TV interview. Here is the link, if somebody happens to understand Bulgarian:http://www.skat.bg/products.php?type=10&genre=6249Sena Karachanak is a Bulgarian Turk, but recently married and changed her surname to Yankova. Apart of some general truths about genetics, they mostly repeated the historical part from the Introduction.At the end of the interview, however, they mentioned something very interesting - the same team is working on a study about ancient mtDNA extracted from skeletons found in Bulgaria from different periods - Neolithic, Thracian and early Medieval.They have cooperated with another Italian researcher specialising in that - namely David Caramelli.http://www.unifi.it/dbalan/CMpro-v-p-119.html

It is not clear at what stage is that study and when we will be able to access it. The above article appeared 3 years after the actual tests were performed, which already makes it a little obsolete.

Sibel Kekilli, who, BTW, is certainly not a typical Turk (as always, by Turk I mean Turks of Turkey) and even probably the most atypical (for Turkish standards) of the people of whom you posted photos. She is exotic for Turkish standards too.

Undoubtedly. And, in addition to the fact that she had rhinoplasty, she may very well only be 50% or less Turk - as many modern Turks in Germany are.

Anecdotal: I have a German cousin who married a Turkish women who already had two children (her Turkish husband simply abandoned her, which is sadly not uncommon). The first child looks Turkish. The second child looks a bit Mediterranean, but has no features identifying him as Turkish. The third (their common) child looks a bit dark, but generally German (my cousin tans easily and has black hair and dark eyes).

With a historically mixed pre-Turk Anatolian, Turk, and German background, you can get almost anything in just one generation.

You have to think about what the Bulgarians were when they arrived in Thrace and not to what they were when began their migration. Huns, Avars, Bulgars, Pechenegs, Cumans etc.. ruled on confederations of tribes subjugated along the way and them were not Turkish. Probably when they arrived in central europe already the turkish element was a minority. Very likely that the Bulgarians in Thrace where more Sarmatian and Slavic than Turks.

I know how her nose was before the rhinoplasty, so I took that into account.

she may very well only be 50% or less Turk - as many modern Turks in Germany are.

Sibel Kekilli is apparently fully Turkish, as her parents were born in Turkey, they have Turkish names (Doğan and Türkan Kekilli), and Sibel Kekilli herself, as far as I know, has reported no ancestry other than Turkish.

I'm not sure what you find so atypical about Sibel Kekilli, at least there is probably nothing (or close to nothing) Mongoloid about her. She often looks pale, yes. But apart from this, I would have rather associated her looks with Orientalids, e.g. the Iranid variety, but don't know exactly how long headed she is. Eurologist said it correctly: She had had her nose made, originally it used to be convex and prominent, and thus typical for West Asians.

Sibel Kekilli is atypical (something to do with her eyes) by Turkish standards (and by world standards as well). I did not associate her unique eyes with Mongoloid admixture; it was Achaean, who tends to exaggerate the effects of the small Mongoloid admixture in Turks.

Achaean, some of those women could pass as South Slavs. Quasi-mongoloid features sometimes occur without much detectable mongoloid admixture. See this Serb for an example of that:http://www.ossrb.org/main/slikezamenije/Seniori/Sasa%20Starovic.JPG

Tugba büyüküstün has middle eastern features this kind of eyes is even to find in northern Africa its typical for members of mtDNA U-K groups.In Iranian peoples its much comon and many people things it has to do with Turks but no they are more than 10'000 years there, nothing to do with Turks or east asia.

When you think logically it does make sense.Bulgars came from what is now Ukraine.Bulgaria contains DNA from that area. Remember Turkic language/origins of the Bulgars is only a speculation and a pretty dodgy one at that. What's even more worrying is that people who we called slavic are not really related at all, suggesting a mass invasion/colonisation like the Spanish in Central and South America.

This would suggest that other invading tribes from the plains of the Ukraine are probably just that.

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